Hypertrophic cardiomyopathy laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of Hypertrophic cardiomyopathy.

OR

Laboratory findings consistent with the diagnosis of Hypertrophic cardiomyopathy include [abnormal test 1], [abnormal test 2], and [abnormal test 3].

OR

[Test] is usually normal for patients with Hypertrophic cardiomyopathy.

OR

Some patients with Hypertrophic cardiomyopathy may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].

OR

There are no diagnostic laboratory findings associated with Hypertrophic cardiomyopathy.

Laboratory Findings

There are no diagnostic laboratory findings associated with Hypertrophic cardiomyopathy.

OR

An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of Hypertrophic cardiomyopathy.

OR

[Test] is usually normal among patients with Hypertrophic cardiomyopathy.

OR

Laboratory findings consistent with the diagnosis of Hypertrophic cardiomyopathy include:

• [Abnormal test 1]
• [Abnormal test 2]
• [Abnormal test 3]

OR

Some patients with Hypertrophic cardiomyopathy may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].

ESC recommendations for genetic counselling and testing

• 1.Genetic counselling by trained professionals working within a multidisciplinary specialist team is recommended for all patients with HCM when their disease cannot be explained solely by a non-genetic cause.
• 2. Genetic testing is recommended in patients fulfilling diagnostic criteria for HCM when it enables cascade genetic screening of their relatives.
• 3. First degree relatives should be provided with information about the consequences of a diagnosis for life insurance, pension, occupation, sporting activities, and eligibility for fostering and adoption before they undergo genetic testing or clinical evaluation.
• 4. When a definite causative genetic mutation is identified, relatives should be first genetically tested and then clinically evaluated if they are found to carry the same mutation.
• 5. When genetic testing cannot be performed or fails to identify a definite mutation, first degree relatives should be offered clinical screening with an ECG and echocardiogram which is then repeated every 1-2 years between 10 and 20 years of age and then every 2-5 years thereafter.
• 6. Clinical and genetic testing of children should be guided by the best interests of the child and consider potential benefits and harms such as compromised life insurance prospects.